Mutations

PSEN1 T245P

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.44752A>C
Genomic Mutation Name (NT1): g.61358A>C
dbSNP ID: rs63750888
Coding/Non-Coding: Coding
Genomic Region: Exon 7
Mutation Type: Point, Missense
Codon Change: ACT to CCT

Findings

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Further Reading

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Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . A presenilin-1 mutation (T245P) in transmembrane domain 6 causes early onset Alzheimer's disease. Neurosci Lett. 2006 May 8;398(3):251-2. PubMed.